Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods
Open accessAbstract
BACKGROUND: Accurate fusion transcript detection is essential for comprehensive characterization of cancer transcriptomes. Over the last decade, multiple bioinformatic tools have been developed to predict fusions from RNA-seq, based on either read mapping or de novo fusion transcript assembly. RESULTS: We benchmark 23 different methods including applications we develop, STAR-Fusion and TrinityFusion, leveraging both simulated and real RNA-seq. Overall, STAR-Fusion, Arriba, and STAR-SEQR are the most accurate and fastest for fusion detection on cancer transcriptomes. CONCLUSION: The lower accuracy of de novo assembly-based methods notwithstanding, they are useful for reconstructing fusion isoforms and tumor viruses, both of which are important in cancer research.
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- Authors
- Haas, B. J., Dobin, A., Li, B., Stransky, N., Pochet, N., & Regev, A.
- Affiliations
- Broad Institute (US)
- Cold Spring Harbor Laboratory (US)
- Celsius Therapeutics (United States) (US)
- Corresponding author
- Haas, Brian J.
- Venue
- Genome biology
- Published
- 2019-10-21
- Volume
- 20
- Issue
- 1
- Pages
- 213-213
- ISSN
- 1465-6906 (ISSN-L)
- 1474-760X
- PMC
- PMC6802306
- OpenAlex
- W2980759299
- Cited by
- 646
- References
- 76
- Citations by year
- 2026: 70 · 2025: 108 · 2024: 93 · 2023: 101 · 2022: 91 · 2021: 132 · 2020: 46 · 2019: 4
- FWCI
- 22.54
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Genome biology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion, cc-by)
- Funders
- National Cancer Institute (U24CA180922, R50CA211461, R21CA209940, U01CA214846)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Keywords
- fusion transcript detection, RNA-seq, read mapping, de novo assembly, STAR-Fusion, Arriba, benchmarking, tumor transcriptome, oncogenic viruses, method accuracy
- MeSH terms
- Neoplasms, Software, Sequence Analysis, RNA, Benchmarking, Genomics, Gene Fusion, Transcriptome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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